ArticleMolecular biology and evolution2015
Rare variation facilitates inferences of fine-scale population structure in humans.
Article in Molecular biology and evolution, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed.
- Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.Proceedings of the National Academy of Sciences of the United States of America · 2016Trial
- Clonality, management and geography shape genetic structure in a perennial species with restricted distribution.Annals of botany · 2026Article
- Genetic diversity and phylogenetic relationships in white lupin.BMC plant biology · 2026Article
- Imputation in the Wild: Genome-Wide Robustness and Fine-Scale Limitations of Low-Coverage Genomes in Endangered Species.Molecular ecology resources · 2026Article
- Evaluating confounding in rare variant genome wide association studies.Nature communications · 2026Article
- Identifying Single-Origin Rare Variants in Population Genomic Data.Molecular biology and evolution · 2025Article
- Methodological opportunities in genomic data analysis to advance health equity.Nature reviews. Genetics · 2025Review
- Archaeogenetics reveals fine-scale genetic continuity and patterns of kinship and health in medieval Finland.iScience · 2025Article
- Footprints of Worldwide Adaptation in Structured Populations of Drosophila melanogaster Through the Expanded DEST 2.0 Genomic Resource.Molecular biology and evolution · 2025Article
- Variation in spatial population structure in thebioRxiv : the preprint server for biology · 2024Article
- Human genetic structure in Northwest France provides new insights into West European historical demography.Nature communications · 2024Article
- Polygenic Indices (a.k.a. Polygenic Scores) in Social Science: A Guide for Interpretation and Evaluation.Sociological methodology · 2024Article
- Rare variants analyses suggest novel cleft genes in the African population.Scientific reports · 2024Article
- Rare Variants Analyses Suggest Novel Cleft Genes in the African Population.Research square · 2024Article
- Analysis of Common SNPs across Continents Reveals Major Genomic Differences between Human Populations.Genes · 2022Article
- Genomic Analyses of Wild and Cultivated Bacanora Agave (Plants (Basel, Switzerland) · 2022Article
- Challenging the utility of polygenic scores for social science: Environmental confounding, downward causation, and unknown biology.The Behavioral and brain sciences · 2022Article
- Recent advances and challenges of rare variant association analysis in the biobank sequencing era.Frontiers in genetics · 2022Review
- Article
- Pronghorn population genomics show connectivity in the core of their range.Journal of mammalogy · 2020Article
Corrections and comments
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Authors and funding
14 authors.
Funding
Abstract
Understanding the genetic structure of human populations has important implications for the design and interpretation of disease mapping studies and reconstructing human evolutionary history. To date, inferences of human population structure have primarily been made with common variants. However, recent large-scale resequencing studies have shown an abundance of rare variation in humans, which may be particularly useful for making inferences of fine-scale population structure. To this end, we used an information theory framework and extensive coalescent simulations to rigorously quantify the informativeness of rare and common variation to detect signatures of fine-scale population structure. We show that rare variation affords unique insights into patterns of recent population structure. Furthermore, to empirically assess our theoretical findings, we analyzed high-coverage exome sequences in 6,515 European and African American individuals. As predicted, rare variants are more informative than common polymorphisms in revealing a distinct cluster of European-American individuals, and subsequent analyses demonstrate that these individuals are likely of Ashkenazi Jewish ancestry. Our results provide new insights into the population structure using rare variation, which will be an important factor to account for in rare variant association studies.
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